ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.562C>T (p.Arg188Trp) (rs553257776)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000571189 SCV000674985 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence
Invitae RCV000555353 SCV000651446 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-08-15 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 188 of the SDHA protein (p.Arg188Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in an individual affected with gastrointestinal stromal tumor (GIST) (PMID: 23282968). ClinVar contains an entry for this variant (Variation ID: 472395). Experimental studies in yeast have shown that this missense change causes a loss of SDHA protein function (PMID: 28724664). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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